cleft upper lip Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000204
Similar Terms
Downloads & Tools

Genes

121 genes associated with the cleft upper lip phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTB actin, beta
ALX3 ALX homeobox 3
AMER1 APC membrane recruitment protein 1
ARHGAP31 Rho GTPase activating protein 31
ASXL1 additional sex combs like transcriptional regulator 1
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GALTL beta 1,3-galactosyltransferase-like
B3GNT1
C5ORF42 chromosome 5 open reading frame 42
CC2D2A coiled-coil and C2 domain containing 2A
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CHD7 chromodomain helicase DNA binding protein 7
COL4A1 collagen, type IV, alpha 1
COLEC11 collectin sub-family member 11
DDX59 DEAD (Asp-Glu-Ala-Asp) box polypeptide 59
DHODH dihydroorotate dehydrogenase (quinone)
DMPK dystrophia myotonica-protein kinase
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EFNB1 ephrin-B1
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF20 fibroblast growth factor 20
FGFR1 fibroblast growth factor receptor 1
FKRP fukutin related protein
FKTN fukutin
FLII flightless I homolog (Drosophila)
FLNB filamin B, beta
FNBP4 formin binding protein 4
FOXC2 forkhead box C2
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
GJA1 gap junction protein, alpha 1, 43kDa
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GPC3 glypican 3
GPC4 glypican 4
GRHL3 grainyhead-like 3 (Drosophila)
GRIP1 glutamate receptor interacting protein 1
HOXD13 homeobox D13
HYLS1 hydrolethalus syndrome 1
ICK intestinal cell (MAK-like) kinase
IFT80 intraflagellar transport 80
IRF6 interferon regulatory factor 6
ISPD isoprenoid synthase domain containing
ITGA8 integrin, alpha 8
JUP junction plakoglobin
KANSL1 KAT8 regulatory NSL complex subunit 1
KDM6A lysine (K)-specific demethylase 6A
KIF7 kinesin family member 7
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
LARGE like-glycosyltransferase
LEMD3 LEM domain containing 3
LMX1B LIM homeobox transcription factor 1, beta
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MED12 mediator complex subunit 12
MEOX1 mesenchyme homeobox 1
MID1 midline 1
MKS1 Meckel syndrome, type 1
MSX1 msh homeobox 1
MSX2 msh homeobox 2
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NBN nibrin
NEK1 NIMA-related kinase 1
NIPBL Nipped-B homolog (Drosophila)
NSDHL NAD(P) dependent steroid dehydrogenase-like
OFD1 oral-facial-digital syndrome 1
PAX3 paired box 3
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PHF8 PHD finger protein 8
PHGDH phosphoglycerate dehydrogenase
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PORCN porcupine homolog (Drosophila)
PROKR2 prokineticin receptor 2
PSAT1 phosphoserine aminotransferase 1
PTCH1 patched 1
PTCH2 patched 2
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
RAI1 retinoic acid induced 1
RET ret proto-oncogene
RIPK4 receptor-interacting serine-threonine kinase 4
RPGRIP1L RPGRIP1-like
RPL5 ribosomal protein L5
RPS19 ribosomal protein S19
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SF3B4 splicing factor 3b, subunit 4, 49kDa
SHH sonic hedgehog
SIX3 SIX homeobox 3
SMAD4 SMAD family member 4
SMOC1 SPARC related modular calcium binding 1
SNX3 sorting nexin 3
SPECC1L sperm antigen with calponin homology and coiled-coil domains 1-like
SUFU suppressor of fused homolog (Drosophila)
SUMO1 small ubiquitin-like modifier 1
TCOF1 Treacher Collins-Franceschetti syndrome 1
TCTN2 tectonic family member 2
TCTN3 tectonic family member 3
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGIF1 TGFB-induced factor homeobox 1
TMCO1 transmembrane and coiled-coil domains 1
TMEM216 transmembrane protein 216
TMEM5 transmembrane protein 5
TP63 tumor protein p63
TRAPPC9 trafficking protein particle complex 9
VAX1 ventral anterior homeobox 1
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
WNT3 wingless-type MMTV integration site family, member 3
YAP1 Yes-associated protein 1
ZSWIM6 zinc finger, SWIM-type containing 6